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Two delayed-diagnosis case reports of long-lasting thrombocytopenia with splenomegaly
Bing Chen1, Wenchu Dai2, Yuni Xu3
1Department of Clinical Laboratory, Wenchang People's Hospital, Wenchang, Hainan, China.
Rationale:
Gaucher disease (GD) is a rare hereditary lysosomal storage disorder disease progression and inappropriate treatment. However, not all patients with GD receive timely diagnosis and treatment.
Patient Concerns:
Early diagnosis is important for initiating proper treatment and preventing complications.
Diagnoses:
Two patients were diagnosed as GD in this study.
Interventions And Outcomes:
These 2 patients received the imiglucerase enzyme replacement and symptoms significantly improved by the follow-up.
Lessons:
Herein, we report 2 patients with a delayed diagnosis of GD to increase awareness and improve education regarding rare diseases. However, noninvasive β-glucocerebrosidase activity or GBA gene testing had not been done before bone marrow aspiration, which are the noninvasive and reliable tests that indicate the diagnosis of GD.
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